The Multidisciplinary Tuberous Sclerosis Complex (TSC) Clinic at Lurie Children's cares for the children of all ages diagnosed with TSC. Our team provides comprehensive individualized care to children with TSC, and actively participates in research to contribute to the growth and development of treatment choices as we continue to search for a cure.

What Is Tuberous Sclerosis Complex (TSC)?

Tuberous sclerosis complex (TSC) is a genetic disorder that can lead to the formation of benign tumor-like lesions in organs throughout the body. These primarily include the brain, eyes, heart, kidneys, lungs, oral cavity, and skin. TSC affects each person differently with some people having more manifestations than others. Some manifestations of TSC may appear at birth while others may not appear until a child is older.

How Common Is TSC & What Causes It?

TSC affects about 1 million people worldwide and occurs in about 1 in every 6,000 births. TSC can occur in any individual regardless of their background or gender.

TSC is a genetic disease that can be inherited from one parent with TSC or can result from a spontaneous genetic mutation. TSC is an autosomal dominant genetic condition, which means that children have a 50% chance of inheriting TSC if one of their parents has the condition. Researchers estimate that only one-third of TSC cases are known to be inherited while the other two-thirds result from a random and unpredictable mutation.

Related Symptoms & Conditions

Every child’s TSC clinical findings can vary and present differently. Seizures are the most common symptom leading to a diagnosis of TSC.

Seizures Epilepsy

Seizures are the most common neurological feature of TSC, with focal seizures occurring in 85% of patients with TSC. 

Infantile Spasms

Infantile spasms occur in about a third of children and most often occur in infancy. 

Brain Findings

Brain abnormalities may be seen in TSC, including cortical tubers, subependymal nodules, and subependymal giant cell astrocytoma (SEGA). 

Renal (Kidney) Symptoms

Renal angiomyolipoma or non-cancerous tumors are the most common type of kidney lesion in TSC.

Skin Symptoms

  • Hypopigmented macules - white patches on the face, body or fingernails which maybe seen under ultraviolet light
  • Shagreen patch - patch of skin that is tough or dimpled similar to that of an orange peel
  • Facial angiofibroma - small red bumps or spot noted across nose, cheeks, chin

Heart Symptoms

Eye Symptoms

  • Retinal hamartomas - Nearly 50% of TSC have this involvement in one or both eyes, but vision loss is uncommon

Development Behavioral Symptoms

  • Behavioral
  • Psychiatric
  • Intellectual
  • Academic
  • Psychosocial
  • Neuro-Psychological
  • TSC-Associated Neuropsychiatric Disorders (TAND)

Our TSC Team

Our team consists of physicians, nurse practitioners, social workers, genetic counselors, nurses, a TSC nurse coordinator, and a school liaison/education specialist dedicated to treating all aspects of TSC. While our team is based in the Epilepsy Center at Lurie Children’s, we see all children with TSC regardless of presence of seizures. Our team also collaborates with other departments necessary to provide the best treatment for each child including dermatology, nephrology, pulmonology, neurosurgery, cardiology, dentistry, ophthalmology, and psychiatry.

Joyce Wu, MD

TSC Clinic Co-Director

Kelly Nelson, MSN, RN, CPN

TSC Nurse Coordinator

Erin McGinnis, MS, CGC

Genetic Counselor

Megan Keeler, LSW, MPH

Social Work

Amanda Torres, MSW

School Liaison

What to Expect & Treatment

Currently, there is no known cure for TSC. Treatment for TSC is based on the symptoms and clinical findings of each child and can be unique for each person. Research is ongoing to advance treatment options for TSC. It is important to closely follow with your medical provider and obtain surveillance tests to obtain the most up to date information available. Some treatment options for children with seizures include medications (anti-seizure medications, mTOR inhibitors), the ketogenic diet, epilepsy surgery, and neuromodulation.

Diagnostic Tests & Surveillance Imaging/Procedures

Make an Appointment

To schedule an appointment with a member of our team, call our Epilepsy Center. Phone lines are open Monday–Friday, 8 a.m.–4 p.m. CST. Your child’s primary care provider or another provider caring for your child may also send a referral to our office, please fax this to 312.227.9644.

Resources & Support

Related News

May 15th is Global Tuberous Sclerosis Complex Awareness Day

Lurie Children’s has a specialty clinic devoted to the diagnosis and care of children and families affected by TSC.

Read more